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rs1064794241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TCTT) 3 Carrier of a pyridoxine-dependent epilepsy mutation
(TCTT;TCTT) 0 common in clinvar


Make rs1064794241(-;-)
Chromosome5
Position126582862
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs1064794241
dbSNP (classic)rs1064794241
ClinGenrs1064794241
ebirs1064794241
HLIrs1064794241
Exacrs1064794241
Gnomadrs1064794241
Varsomers1064794241
LitVarrs1064794241
Maprs1064794241
PheGenIrs1064794241
Biobankrs1064794241
1000 genomesrs1064794241
hgdprs1064794241
ensemblrs1064794241
geneviewrs1064794241
scholarrs1064794241
googlers1064794241
pharmgkbrs1064794241
gwascentralrs1064794241
openSNPrs1064794241
23andMers1064794241
SNPshotrs1064794241
SNPdbers1064794241
MSV3drs1064794241
GWAS Ctlgrs1064794241
Max Magnitude3
ClinVar
Risk rs1064794241(-;-)
Alt rs1064794241(-;-)
Reference Rs1064794241(TCTT;TCTT)
Significance Pathogenic
Disease not provided
Variation info
Gene ALDH7A1
CLNDBN not provided
Reversed 1
HGVS NC_000005.9:g.125918554_125918557delAAGA
CLNSRC
CLNACC RCV000486613.1,